A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559718



Internal ID16347127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:89708819..89709574hg38UCSC Ensembl
Innerchr12:90102596..90103351hg19UCSC Ensembl
Innerchr12:88626727..88627482hg18UCSC Ensembl
Cytoband12q21.33
Allele length
AssemblyAllele length
hg38756
hg19756
hg18756
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2776n54
Supporting Variantsnssv800055, nssv800054, nssv800057, nssv800056, nssv800059, nssv800058
Samples
Known GenesLINC00936
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559718
Frequency
Sample Size17421
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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